ClinVar Miner

List of variants studied for ciliopathy by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_153614.4(DNAJB13):c.374T>G (p.Phe125Cys) rs139317756 0.00181
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys) rs199706377 0.00149
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn) rs140556652 0.00149
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys) rs111912673 0.00131
NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys) rs147979953 0.00121
NM_001277115.2(DNAH11):c.7267-5C>G rs370674737 0.00113
NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp) rs200260585 0.00102
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_015512.5(DNAH1):c.7742A>G (p.Asn2581Ser) rs200839854 0.00076
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln) rs142184414 0.00075
NM_015512.5(DNAH1):c.5740G>A (p.Glu1914Lys) rs199740667 0.00056
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880 0.00049
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val) rs143745645 0.00048
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn) rs200485999 0.00042
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg) rs150050027 0.00036
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) rs201739201 0.00031
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) rs138815960 0.00021
NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs) rs746361802 0.00021
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) rs368959723 0.00016
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala) rs372733227 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr) rs771891040 0.00009
NM_001372.4(DNAH9):c.11444G>A (p.Arg3815Gln) rs145166733 0.00009
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932 0.00008
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His) rs1169328891 0.00007
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) rs201020293 0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) rs138320978 0.00006
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn) rs149230619 0.00003
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys) rs1040832003 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_001270974.2(HYDIN):c.3187A>G (p.Lys1063Glu) rs1214490303 0.00001
NM_001270974.2(HYDIN):c.6864C>A (p.His2288Gln) rs1336810918 0.00001
NM_001277115.2(DNAH11):c.11087G>A (p.Arg3696Lys) rs1262229619 0.00001
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) rs377691013 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001369.3(DNAH5):c.2052+1G>T rs1774569455 0.00001
NM_001369.3(DNAH5):c.7132G>A (p.Glu2378Lys) rs1409796457 0.00001
NM_015512.5(DNAH1):c.5244+1G>A rs369746640 0.00001
NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln) rs991936622 0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329 0.00001
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter) rs780020801 0.00001
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001256715.2(DNAAF3):c.366_430del (p.Val126fs)
NM_001270974.2(HYDIN):c.7370T>C (p.Phe2457Ser)
NM_001277115.1:c.5554_6181-2105delinsGGTA
NM_001277115.2(DNAH11):c.1987C>G (p.Pro663Ala) rs546189940
NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu) rs762314534
NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile)
NM_001364171.2(ODAD1):c.1336C>T (p.Leu446Phe) rs751149003
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu) rs144958262
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) rs1270916321
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001372.4(DNAH9):c.8293del (p.Glu2765fs)
NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His) rs199960819
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_006346.4(PIBF1):c.1971_1973delinsT (p.Leu657fs) rs774671946
NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp) rs138954776
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln) rs560527787
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His) rs200951874
NM_015512.5(DNAH1):c.2254C>T (p.Arg752Ter)
NM_015512.5(DNAH1):c.2992A>G (p.Asn998Asp) rs1042476924
NM_015910.7(WDPCP):c.1011G>C (p.Lys337Asn) rs1694406253
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys) rs2143578223
NM_017950.4(CCDC40):c.798del (p.Ser267fs)
NM_033124.5(CCDC65):c.877_878del (p.Ile293fs) rs863223325
NM_130810.4(DNAAF4):c.583del (p.Lys194_Ile195insTer) rs753649614
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del) rs397515340
NM_178452.6(DNAAF1):c.1202T>C (p.Val401Ala)
NM_178452.6(DNAAF1):c.2049_2056del (p.Ala684fs) rs1567570991
NM_178452.6(DNAAF1):c.2143dup (p.Asp715fs)
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs) rs781526810

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